Varaico: Literature-Extracted Genetic Variants

SLC4A11

168 papers

RefSeq Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been a...

Pfam Domains

HCO3_cotranspaa 324–393UCSCHCO3- transporter integral membrane domain

HCO3_cotranspaa 324–874UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 11

HGNC Previous Symbols

CHED2; CDPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001174089.2

p.F540S

c.1619T>C

Surrounding Variants

2 papers

NM_001174089.2

p.F540F

c.1620C>T

1 paper

NM_032034.4

p.S555N

c.1664G>A

1 paper

NM_001174089.2

p.A542G

c.1625C>G

1 paper

NM_001174089.2

p.A538G

c.1613C>G

1 paper

NM_001174089.2

p.T545A

c.1633A>G

1 paper

NM_032034.4

p.T561M

c.1682C>T

1 paper

NM_001174089.2

p.E546K

c.1636G>A

1 paper

NM_001174089.2

p.L547P

c.1640T>C

1 paper

NM_001174089.2

p.T545_P548del0

c.1633_1644del12

3 papers

NM_032034.4

p.S565L

c.1694C>T

NM_001174089.2

p.S549L

c.1646C>T

1 paper

NM_032034.4

p.A546T

c.1636G>A

1 paper

NM_001174089.2

p.S553fs

c.1657_1658fs